Variant report

Variant	rs2691096
Chromosome Location	chr5:119819544-119819545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119808055..119810558-chr5:119818687..119821313,2	K562	blood:
2	chr5:119814891..119816438-chr5:119818822..119820625,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10050881	1.00[MEX][hapmap]
rs10062669	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10078298	1.00[EUR][1000 genomes]
rs1503926	1.00[GIH][hapmap]
rs17146687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs17146688	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs17146690	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs17146693	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs17146714	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs17146715	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs17146717	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes]
rs17146746	1.00[MEX][hapmap]
rs17146779	1.00[MEX][hapmap]
rs2405952	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs2604162	1.00[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691095	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28702378	0.93[EUR][1000 genomes]
rs56008932	0.93[EUR][1000 genomes]
rs56053702	0.93[EUR][1000 genomes]
rs60492181	0.93[EUR][1000 genomes]
rs60693875	1.00[EUR][1000 genomes]
rs6881030	1.00[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6887667	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893168	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783454	0.93[EUR][1000 genomes]
rs73783455	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3387506	chr5:119819178-119821426	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119812000-119826800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
4	chr5:119816200-119819600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:119816400-119835400	Weak transcription	Osteobl	bone
6	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119818600-119835000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:119819000-119829400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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